Prevalence of adrenal rest tumors and course of gonadal dysfunction in a clinical sample of men with congenital adrenal hyperplasia: a longitudinal analysis over 10 years

Auer MK; Buyukerzurmulu D; Lottspeich C; Bidlingmaier M; Rieger E; Nowotny H; Tschaidse L; Auchus RJ; Reisch N

doi:10.1530/ey.22.8.6

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ESPE Yearbook of Paediatric Endocrinology (2025) 22 8.6 | DOI: 10.1530/ey.22.8.6

ESPEYB25 8. Adrenals Important for Clinical Practice (5 abstracts)

8.6. Prevalence of adrenal rest tumors and course of gonadal dysfunction in a clinical sample of men with congenital adrenal hyperplasia: a longitudinal analysis over 10 years

Auer MK , Büyükerzurmulu D , Lottspeich C , Bidlingmaier M , Rieger E , Nowotny H , Tschaidse L , Auchus RJ & Reisch N

Eur J Endocrinol. 2024; 191(3): 370-380. PMID: 39308408 doi: 10.1093/ejendo/lvae112. https://pubmed.ncbi.nlm.nih.gov/39308408/

Brief summary: This longitudinal, retrospective single-center study evaluated testicular adrenal rest tumors (TART) and gonadal function in 27 adult men with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.

Comment: TART were present in 11 participants. Subnormal testosterone concentrations were frequent in both groups (43% without TART; 55% with TART), but testosterone and luteinizing hormone (LH) concentrations increased modestly over time in both cohorts; with TART, testosterone from 10.1 to 17.3nmol/l; without TART, testosterone from 10.3 to 12.8 nmol/l. Men with TART had slightly higher adjusted testosterone concentrations compared to those without (14.0 nmol/l vs 11.9 nmol/l). Glucocorticoid dose decreased marginally over time. Importantly, inhibin B concentrations declined in men with large TART, despite no change in TART size, suggesting Sertoli cell dysfunction and potential fertility impairment. This decline occurred independently of adrenal androgen control, testosterone trends, or glucocorticoid dose.

These findings suggest that while TART do not lead to progressive testosterone deficiency, gonadal dysfunction remains prevalent in men with CAH. Routine imaging for TART in asymptomatic adults may not be necessary. However, monitoring fertility markers, especially inhibin B, is recommended in men with large or persistent TART. This highlights the importance of individualized monitoring of gonadal function and fertility potential in men with CAH, with a focus on balancing hormonal control and minimizing overtreatment (1, 2).

References: 1. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32(1):81-151.2. Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022;43(1):91-159.